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Article

EPHA2 MUTATIONS CONTRIBUTE TO CONGENITAL CATARACT THROUGH DIVERSE MECHANISMS.

Molecular vision - 1 Jan 2016

Dave Alpana, Martin Sarah, Kumar Raman, Craig Jamie E, Burdon Kathryn P, Sharma Shiwani

Abstract excerpt

PURPOSE: Congenital cataract is a leading cause of childhood blindness. Mutations in the EPHA2 gene are one of the causes of inherited congenital cataract. The EPHA2 gene encodes a membrane-bound tyrosine kinase receptor and is highly expressed in epithelial cells, including in the ocular lens. Signaling through the EPHA2 receptor plays a pivotal role in epithelial cell homeostasis. The aim of this study was to...

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Identifiers

PMID: 26900323
PMCID: PMC4734147

Genes

EPHA2

Variants

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Related research

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EPHA2 MUTATIONS CONTRIBUTE TO CONGENITAL CATARACT THROUGH DIVERSE MECHANISMS.PMID 26900323Read ↗

Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract.Semantic proximity Read ↗

Human cataract mutations in EPHA2 SAM domain alter receptor stability and function.Semantic proximity Read ↗

Functional analysis of deleterious EPHA2 SNPs in lens epithelial cells.Semantic proximity Read ↗

Functional analysis of deleterious EPHA2 SNPs in lens epithelial cells.Semantic proximity Read ↗

Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia.Semantic proximity Read ↗

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.Semantic proximity Read ↗

Biallelic Variants in EPHA2 Identified in Three Large Inbred Families with Early-Onset Cataract.Semantic proximity Read ↗

Genotype, Age, Genetic Background, and Sex Influence Epha2-Related Cataract Development in Mice.Semantic proximity Read ↗

A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family.Semantic proximity Read ↗

EPHA2 is associated with age-related cortical cataract in mice and humans.Semantic proximity Read ↗

The EPHA2 gene is associated with cataracts linked to chromosome 1p.Semantic proximity Read ↗

Mutation of the EPHA2 Tyrosine-Kinase Domain Dysregulates Cell Pattern Formation and Cytoskeletal Gene Expression in the Lens.Semantic proximity Read ↗

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